Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences

Tim H.M. Huang, Frank Greenberg, David H. Ledbetter

Research output: Contribution to journalArticle

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We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.

Original languageEnglish (US)
Pages (from-to)619-620
Number of pages2
JournalHuman Genetics
Issue number6
Publication statusPublished - Apr 1991


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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